1. Gene
  2. EPPK1 - epiplakin 1 Gene

EPPK1 - epiplakin 1 Gene

中文名称:epiplakin 1

种属: Homo sapiens

同用名: EPIPL; EPIPL1

基因 ID: 83481 | 基因类型: protein coding

关于 EPPK1

Cytogenetic location: 8q24.3 Genomic coordinates (GRCh38): 8:143,857,324-143,879,194 (from NCBI)

This gene has 2 transcripts (splice variants), 91 orthologues and 36 paralogues. Biased expression in skin (RPKM 9.0), colon (RPKM 7.5) and 10 other tissues.

功能概要

该基因编码的蛋白质属于 plakin 蛋白质家族,在细胞骨架结构的组织中发挥作用。这个家族成员由几个高度同源的斑块重复序列组成。它可能起到维持上皮细胞中角蛋白中间丝网络完整性的作用。对直系同源小鼠蛋白的研究表明,它在伤口愈合过程中加速角质形成细胞的迁移。[RefSeq 提供,2013 年 10 月]

The protein encoded by this gene belongs to the plakin family of proteins, which play a role in the organization of cytoskeletal architecture. This family member is composed of several highly homologous plakin repeats. It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the orthologous mouse protein suggest that it accelerates keratinocyte migration during wound healing. [provided by RefSeq, Oct 2013]

EPPK1 基因产物(1)

mRNA Protein Name
NM_031308.4 NP_112598.3 epiplakin
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables intermediate filament binding IPI
IPI: 通过物理相互作用推断
15671067 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in intermediate filament organization IDA
IDA: 通过直接分析推断
23398049 GOA
involved in intermediate filament organization IMP
IMP: 通过突变表型推断
15671067 GOA
involved in negative regulation of cell migration IMP
IMP: 通过突变表型推断
23398049 GOA
involved in negative regulation of epithelial cell proliferation IMP
IMP: 通过突变表型推断
27206504 GOA
involved in negative regulation of wound healing IMP
IMP: 通过突变表型推断
23398049 GOA
involved in wound healing IMP
IMP: 通过突变表型推断
27206504 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in bicellular tight junction IDA
IDA: 通过直接分析推断
23398049 GOA
located in cell periphery IDA
IDA: 通过直接分析推断
23398049 GOA
located in cytoskeleton IDA
IDA: 通过直接分析推断
15671067 GOA
located in hemidesmosome IDA
IDA: 通过直接分析推断
23398049 GOA
located in keratin filament IDA
IDA: 通过直接分析推断
23398049 GOA
located in perinucleolar compartment IDA
IDA: 通过直接分析推断
15671067 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

EPPK1 蛋白结构

Plectin

Plectin: Plectin repeat (72 - 116)

Plectin

Plectin: Plectin repeat (149 - 191)

Plectin

Plectin: Plectin repeat (316 - 360)

Plectin

Plectin: Plectin repeat (392 - 435)

Plectin

Plectin: Plectin repeat (603 - 647)

Plectin

Plectin: Plectin repeat (643 - 685)

Plectin

Plectin: Plectin repeat (717 - 761)

Plectin

Plectin: Plectin repeat (929 - 966)

Plectin

Plectin: Plectin repeat (961 - 1005)

Plectin

Plectin: Plectin repeat (1038 - 1079)

Plectin

Plectin: Plectin repeat (1277 - 1320)

Plectin

Plectin: Plectin repeat (1353 - 1394)

Plectin

Plectin: Plectin repeat (1565 - 1606)

Plectin

Plectin: Plectin repeat (1602 - 1646)

Plectin

Plectin: Plectin repeat (1678 - 1721)

Plectin

Plectin: Plectin repeat (1891 - 1933)

Plectin

Plectin: Plectin repeat (1930 - 1972)

Plectin

Plectin: Plectin repeat (2004 - 2046)

Plectin

Plectin: Plectin repeat (2218 - 2265)

Plectin

Plectin: Plectin repeat (2260 - 2304)

Plectin

Plectin: Plectin repeat (2336 - 2379)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2000
  • 2420 a.a.
蛋白主名 其他名称

epiplakin

450 kDa epidermal antigen

关联疾病

疾病名称 别名
Melanotic Medulloblastoma

Medulloblastoma, Melanotic

Paraneoplastic Pemphigus
Sarcomatosis
Maxillary Cancer

Maxillary Neoplasm

Maxillary Neoplasms

Upper Jaw Bone Cancer

Subcorneal Pustular Dermatosis

Subcorneal Pustular Dermatitis

Sneddon-Wilkinson Disease Or Syndrome

Pustulosis Subcornealis

Sneddon-Wilkinson Disease

Skin Diseases, Vesiculobullous

Vesiculobullous Skin Disease

Jaw Cancer

Jaw Neoplasms

Jaw Neoplasm

Neoplasm Of Jaw

Cancer Of Jaw

Bullous Skin Disease

Skin Diseases Bullous

Skin Diseases, Bullous

疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus EPPK1 RGD RGD:1587023
Mus musculus EPPK1 MGD MGI:2386306
Bos taurus EPPK1 VGNC VGNC:106726